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The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget's Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis.
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- Journal of Molecular Neuroscience, 2011, v. 45, n. 3, p. 522, doi. 10.1007/s12031-011-9627-y
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- Article
DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).
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- 1991
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- Publication type:
- journal article
VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease.
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- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013183
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- Article
A progressive translational mouse model of human valosin-containing protein disease: The VCP<sup>R155H/+</sup> mouse.
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- Muscle & Nerve, 2013, v. 47, n. 2, p. 260, doi. 10.1002/mus.23522
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- Article
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
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- Cellular & Molecular Life Sciences, 2012, v. 69, n. 12, p. 2075, doi. 10.1007/s00018-011-0913-1
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- Article
Global Gene Expression Profiling in R155H Knock-In Murine Model of VCP Disease.
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- CTS: Clinical & Translational Science, 2015, v. 8, n. 1, p. 8, doi. 10.1111/cts.12241
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- Article
Global Gene Profiling of VCP-associated Inclusion Body Myopathy.
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- CTS: Clinical & Translational Science, 2012, v. 5, n. 3, p. 226, doi. 10.1111/j.1752-8062.2012.00407.x
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- Article
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
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- Human Molecular Genetics, 2005, v. 14, n. 11, p. 1475, doi. 10.1093/hmg/ddi157
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- Article
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
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- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2893, doi. 10.1093/hmg/ddh312
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- Article
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 885, doi. 10.1093/hmg/11.8.885
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- Article
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid...
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- Nature, 1995, v. 376, n. 6541, p. 584, doi. 10.1038/376584a0
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- Article
Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 341
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- Article
An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32.
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- Human Molecular Genetics, 1992, v. 1, n. 3, p. 217
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- Publication type:
- Article